Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect

Description

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension
  • Fatigue
  • Respiratory insufficiency
  • Edema
  • Congestive heart failure
  • Abdominal pain

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect Is also known as combined oxidative phosphorylation defect type 28, coxpd28.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

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Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics (Finland).

BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2 , (...)

View the complete list with 411 more genes
Specificity
1 %
Genes
100 %
Coenzyme q10 Deficiency Panel.

By Blueprint Genetics (Finland).

APTX, COQ8A, PDSS1, COQ4, COQ6, SLC25A26, COQ7, PDSS2, COQ2, COQ9, ANO10, COQ5, ETFA, ETFB, ETFDH
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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